Variant report

Variant	rs12698933
Chromosome Location	chr7:70204253-70204254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10270627	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10270852	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10950211	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698934	0.81[ASN][1000 genomes]
rs1569078	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718991	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718992	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6946969	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs723340	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7777347	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806434	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1812409	chr7:70187264-70206903	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1837102	chr7:70196953-70210959	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1842517	chr7:70196953-70210959	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:70196200-70211600	Weak transcription	Brain Germinal Matrix	brain
3	chr7:70198400-70218000	Weak transcription	Dnd41	blood
4	chr7:70199400-70205400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:70199600-70205400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:70199800-70205000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:70200200-70205200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:70200600-70206000	Enhancers	Liver	Liver
9	chr7:70201800-70205000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:70202000-70205400	Enhancers	Fetal Brain Male	brain
11	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:70202200-70205400	Enhancers	Fetal Heart	heart
13	chr7:70202200-70209800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:70202400-70204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:70202400-70204600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:70202400-70204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:70202400-70204800	Weak transcription	Brain Anterior Caudate	brain
18	chr7:70202400-70205200	Enhancers	Adipose Nuclei	Adipose
19	chr7:70202400-70205400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:70202400-70205400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:70202400-70206800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:70202400-70209200	Weak transcription	Right Ventricle	heart
23	chr7:70202400-70209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:70202400-70213800	Weak transcription	HSMMtube	muscle
25	chr7:70202400-70217800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:70202400-70227200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
28	chr7:70202600-70204400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:70202600-70205000	Weak transcription	Fetal Kidney	kidney
30	chr7:70202800-70205200	Enhancers	Ovary	ovary
31	chr7:70202800-70205400	Enhancers	NHEK	skin
32	chr7:70202800-70209600	Weak transcription	Brain Substantia Nigra	brain
33	chr7:70203200-70204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:70203200-70205200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:70203200-70205600	Enhancers	Primary T cells from cord blood	blood
36	chr7:70203200-70206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:70203400-70204800	Weak transcription	Fetal Stomach	stomach
38	chr7:70203400-70205000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:70203400-70214200	Weak transcription	HSMM	muscle
40	chr7:70203600-70204400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:70203600-70207400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:70203600-70207800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:70203600-70208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:70203600-70208800	Weak transcription	Fetal Brain Female	brain
45	chr7:70203800-70204600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:70203800-70204800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:70203800-70204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:70203800-70204800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:70203800-70204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:70203800-70204800	Weak transcription	Duodenum Mucosa	Duodenum

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